Insight into MECP2 Duplication Syndrome: Unraveling Disease Severity and Expression Variability Using Multiomics and Deep Phenotyping

D. Pehlivan, J. D. Bengtsson, S. S. Bajikar,C. M. Grochowski, M. Y. Lun, H. K. Harris, B. Suter, S. Aras, M. B. Ramocki, A. T. Abdelmoity, A. Lindstrandt, F. J. Sedlazeck,J. R. Lupski,H. Y. Zoghbi, C. M. Carvalho

ANNALS OF NEUROLOGY（2025）

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Key words

Neurogenetics,Neurodevelopmental Disorders

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